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See diagnostics in a new way

Whole genome sequencing –
a comprehensive view into patients’ genetic data

Often, after months, years and many costly tests, patients and physicians find themselves back where they started – sometimes with a dramatic deterioration of patients‘ quality of life.

CentoGenome® is the superior way to diagnose genetically complex and undiagnosed diseases with the highest level of certainty.

Why whole genome sequencing?

Today there are millions of patients suffering from wrongly or undiagnosed genetic diseases. WGS identifies nearly all changes in a patient’s DNA by sequencing the entire coding and non-coding regions of the genome. It provides detailed information on the thousands of genes involved in normal growth and development and all of the ‘silent’ genome regions simultaneously.

Existing research and diagnosis of genetic diseases have been heavily biased towards mutations in gene coding regions, but this is only 1% of a patient’s entire genome. Numerous clinical studies now exist which reveal the critical role of non-coding sequence variants in diseases.

WGS opens the door to greater research and diagnostic power for all genetic diseases.

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    Nearly complete coverage of a patient’s genome

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    Comprehensive medical reports validated by highly experienced medical experts

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    Quick turnaround time

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    Easy sample submission with CentoCard®

Be the first to experience our new level of diagnostics and get 10% discount on all CentoGenome® orders! *

* On standard list price, no further discounts apply. Sample reception until December 31, 2016.
Receive promo code now

Whole genome sequencing and analysis at CENTOGENE

CENTOGENE is revolutionizing genetic diagnostics with CentoGenome® – our premium whole genome analysis service for the diagnosis of complex diseases.

Whole genome sequencing (WGS) with CentoGenome® provides the most comprehensive genetic testing available for the detection of rare diseases. It identifies more different types of DNA sequence variation and offers greater sensitivity than any other technology available.

Our genome pipeline includes all of the following in a single, in-house workflow:

  • In-house validated sequencing workflow of all coding and non-coding genome regions utilizing Illumina next generation sequencing (NGS) platform
  • Filtering, analysis and interpretation of single-nucleotide variants (SNVs), indels, structural variants, and CNVs both in the ~1% portion of the genome that encodes protein sequences and in non-coding sequences
  • End-to end bioinformatics analysis of raw data with clinical reporting
  • Streamlined processes

Your support for complex undiagnosed cases

Use CentoGenome® for diagnosis when the patient presents:

  • Complex and heterogenous syndromes with an unclear or atypical phenotype
  • A phenotype with significant genetic heterogeneity, where mutations in several genes may lead to the same clinical presentation (for example neuropathies, ataxias, intellectual disability, and muscular disorders)
  • Causative cancer mutation in tumors at every stage of treatment

CentoGenome®’s key application is the diagnosis of severe intellectual disability

A detailed clinical analysis with comprehensive genetic testing is known to be the best way to achieve a diagnosis in this disorder, which often has a high level of genetic heterogeneity. WGS analysis with CentoGenome® can be applied as the primary analysis needed to reliably identify and characterize the comprehensive spectrum of genetic variation and provide a genetic diagnosis in the majority of patients with ID.


Centogenome brochure packshot

Successful diagnosis of hyperphosphatasia with mental retardation syndrome type 4 after detecting the c.181+1G>T variant in the PGAP3 gene – using CentoGenome®.

Download our case study

Centogenome brochure packshot

Successful diagnosis of Gitelman syndrome after detecting the c.1670-191CYT variant in the SLC12A3 gene – using CentoGenome®.

Download our case study

Caring about your needs to bring you diagnostic certainty

We provide different packages to tailor your needs

Package

Coverage

Turnaround time

Comprehensive medical report

Solo Basic 30x 20
Solo Advanced 30x 25
Trio Advanced 30x 25
Trio Advanced - Fast 30x 10
Somatic Advanced* 90x Tumor / 30x Normal 25
Somatic Advanced - Fast* 90x Tumor / 30x Normal 10
Somatic Advanced - Deep* 140x Tumor / 40x Normal 25

*available soon

Order CentoGenome® now and see diagnostics in a new way.

Get in touch with our Department of Medical Quality and Counseling

Our medical consultation service is available for you both before and after testing.

Call us

+49 (0) 381 203 652 - 222

Monday – Friday 07:00 – 20:00 CET
Saturday – Sunday 09:00 – 17:00 CET

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